A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546328



Internal ID15987051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:59583022..59583847hg38UCSC Ensembl
Innerchr1:60048694..60049519hg19UCSC Ensembl
Innerchr1:59821282..59822107hg18UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38826
hg19826
hg18826
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv286n54
Supporting Variantsnssv715297
Samples
Known GenesFGGY
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546328
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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